Gene Symbol | PIGN |
Entrez Gene ID | 23556 |
Full Name | phosphatidylinositol glycan anchor biosynthesis class N |
Synonyms | MCAHS,MCAHS1,MCD4,MDC4,PIG-N |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) |